Congenital Hypothyroidism

Congenital Hypothyroidism (CH)
An Endocrine Disorder

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What is it?
Congenital Hypothyroidism (CH) is a disease that is caused by the under-activity of the thyroid gland. This under-activity results in underproduction of thyroid hormones. These hormones play an important role in proper body metabolism. In growing children these hormones are essential for normal physical growth and mental development.

Inheritance and Frequency
Congenital Hypothyroidism generally does not follow any type of pattern as to whom it will affect and randomly affects infants from almost every origin. Only 15% to 20% of the cases are inherited.

It is estimated that congenital hypothyroidism occurs in one of every 3,000 to 4,000 births, making it one of the most common metabolic disorders. Females are affected more than twice as often as males.

Signs & Symptoms
Clinical signs of hypothyroidism often do not appear until the infant is 3-4 months of age, thus it is most likely that affected infants will have already suffered irreversible brain damage before signs of the disease begin to appear. Many times the early diagnosis relies almost solely on the results of the newborn screening. An affected infant may have prolonged neonatal jaundice, growth failure, lethargy, poor appetite and constipation.

Long Term Effects
Affected infants who are treated within the first few weeks of life will have normal or near-normal intelligence. Delayed treatment can cause mental retardation, growth failure, deafness, and neurological problems.

Treatment
Treatment for hypothyroidism is by drug therapy. An infant born with this condition will have to take the drug thyroxine throughout his/her lifetime. Thyroxine is usually taken orally.

History

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter the state of your residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

Support Groups

MUMS - National Parent-to-Parent Network

The MAGIC Foundation for Children's Growth (MAGIC)
1327 North Harlem Avenue
Oak Park, IL 60302
(708) 383-0808 or 1-800-362-4423

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Revised 01/07/2007